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	intrahepatic cholestasis of pregnancy

Disease ID	755
Disease	intrahepatic cholestasis of pregnancy
Definition	Intrahepatic cholestasis of pregnancy (ICP), also known as obstetric cholestasis, cholestasis of pregnancy, jaundice of pregnancy, and prurigo gravidarum,[1] is a medical condition in which cholestasis occurs during pregnancy. It typically presents with troublesome itching[2] and can lead to complications for both mother and fetus. - Wikipedia Reference: https://en.wikipedia.org/wiki/intrahepatic cholestasis of pregnancy
Synonym	cholestasis of pregnancy cholestasis of pregnancy (disorder) cholestasis pregnancy cholestasis, intrahepatic of pregnancy cholestasis, intrahepatic, of pregnancy cholestasis, pregnancy-related intrahepatic cholestasis of pregnancy (disorder) intrahepatic cholestasis of pregnancy (disorder) [ambiguous] obstetric cholestasis pregnancy cholestasis pregnancy related cholestasis pregnancy-related cholestasis recurrent intrahepatic cholestasis of pregnancy recurrent jaundice of pregnancy ricp
Orphanet	ORPHANET:69665
DOID	DOID:1852
UMLS	C0268318
SNOMED-CT	SNOMEDCT_US_2016_09_01:235888006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:11) C0019343 \| pemphigoid gestationis \| 3 C0019158 \| hepatitis \| 2 C0042109 \| urticarial \| 2 C0019163 \| hepatitis b \| 1 C0042769 \| virus infection \| 1 C0037274 \| dermatoses \| 1 C0019196 \| hepatitis c \| 1 C0023895 \| liver disease \| 1 C0022876 \| preterm labor \| 1 C0030805 \| pemphigoid \| 1 C0159069 \| impaired glucose tolerance \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 7124 \| TNF \| CTD_human 5244 \| ABCB4 \| CTD_human;ORPHANET 8647 \| ABCB11 \| ORPHANET 5205 \| ATP8B1 \| CLINVAR;ORPHANET 9971 \| NR1H4 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 2099 \| ESR1 \| CIPHER 3117 \| HLA-DQA1 \| CIPHER 1636 \| ACE \| CIPHER 5244 \| ABCB4 \| CTD_human 7124 \| TNF \| CTD_human
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:4) ABCB4 \| 7q21.12 ABCB11 \| 2q31.1 ATP8B1 \| 18q21.31 NR1H4 \| 12q23.1

Disease ID	755
Disease	intrahepatic cholestasis of pregnancy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0012115 \| Liver inflammation \| 2 HP:0200034 \| Papule \| 2 HP:0011675 \| Arrhythmias \| 2 HP:0001518 \| Small for gestational age \| 1 HP:0000989 \| pruritis \| 1 HP:0000833 \| Glucose intolerance \| 1

Disease ID	755
Disease	intrahepatic cholestasis of pregnancy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:7) C1314968 \| impetigo herpetiformis C0728731 \| prematurity C0456087 \| fetal asphyxia C0349489 \| fetal hypoxia C0038238 \| steatorrhea C0033774 \| pruritus C0033774 \| itching
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0033774 \| pruritus \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:6)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs17222723	18176959	8647	ABCB11	umls:C0268318	BeFree	To study the association of three common ABCB11 and ABCC2 polymorphisms (ABCB11: 1331T>C --> V444A; ABCC2: 3563T>A --> V1188E and 4544G>A --> C1515Y) with intrahepatic cholestasis of pregnancy (ICP) and contraceptive-induced cholestasis (CIC).	0.125971721	2008	ABCC2	10	99836239	T	A
rs2287622	16394881	8647	ABCB11	umls:C0268318	BeFree	One mutation (E186G) had been described in one BRIC-2 case; the second mutation (V444A) is more frequent and has been linked to intrahepatic cholestasis of pregnancy.	0.125971721	2006	ABCB11	2	168973818	A	T,G,C
rs2287622	18176959	8647	ABCB11	umls:C0268318	BeFree	To study the association of three common ABCB11 and ABCC2 polymorphisms (ABCB11: 1331T>C --> V444A; ABCC2: 3563T>A --> V1188E and 4544G>A --> C1515Y) with intrahepatic cholestasis of pregnancy (ICP) and contraceptive-induced cholestasis (CIC).	0.125971721	2008	ABCB11	2	168973818	A	T,G,C
rs34719006	NA	5205	ATP8B1	umls:C0268318	CLINVAR	NA	0.241628651	NA	ATP8B1;LOC105372142	18	57706561	C	T,A
rs72551307	16394881	8647	ABCB11	umls:C0268318	BeFree	One mutation (E186G) had been described in one BRIC-2 case; the second mutation (V444A) is more frequent and has been linked to intrahepatic cholestasis of pregnancy.	0.125971721	2006	ABCB11	2	168995403	T	C
rs8187710	18176959	8647	ABCB11	umls:C0268318	BeFree	To study the association of three common ABCB11 and ABCC2 polymorphisms (ABCB11: 1331T>C --> V444A; ABCC2: 3563T>A --> V1188E and 4544G>A --> C1515Y) with intrahepatic cholestasis of pregnancy (ICP) and contraceptive-induced cholestasis (CIC).	0.125971721	2008	ABCC2	10	99851537	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	755
Disease	intrahepatic cholestasis of pregnancy
Case	(Waiting for update.)

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